ArticleAmerican journal of human genetics2001
A new locus for autosomal dominant dilated cardiomyopathy identified on chromosome 6q12-q16.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 49 citations in OpenAlex.
- Cocaine Exposure Increases Blood Pressure and Aortic Stiffness via the miR-30c-5p-Malic Enzyme 1-Reactive Oxygen Species Pathway.Hypertension (Dallas, Tex. : 1979) · 2018Article
- Hearing Profile in Patients with Dilated and Hypertrophic Cardiomyopathies.Electronic physician · 2016Article
- Mendelian forms of structural cardiovascular disease.Current cardiology reports · 2013Review
- Dilated cardiomyopathy: the complexity of a diverse genetic architecture.Nature reviews. Cardiology · 2013Review
- Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.Circulation. Cardiovascular genetics · 2012Article
- Monogenic atrial fibrillation as pathophysiological paradigms.Cardiovascular research · 2011Review
- Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy.PLoS genetics · 2010Article
- An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15.Mammalian genome : official journal of the International Mammalian Genome Society · 2009Article
- Prediction of human disease genes by human-mouse conserved coexpression analysis.PLoS computational biology · 2008Article
- [Genetics of atrial fibrillation: rare mutations, common variants and clinical relevance?].Herzschrittmachertherapie & Elektrophysiologie · 2006Review
- A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.Human genetics · 2005Article
- In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.Journal of medical genetics · 2005Article
- Genetic Counseling and Screening Issues in Familial Dilated Cardiomyopathy.Journal of genetic counseling · 2001Article
- Many roads lead to a broken heart: the genetics of dilated cardiomyopathy.American journal of human genetics · 2001Review
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dilated cardiomyopathy (DCM) is a heart-muscle disease characterized by ventricular dilatation and impaired heart contraction and is heterogeneous both clinically and genetically. To date, 12 candidate disease loci have been described for autosomal dominant DCM. We report the identification of a new locus on chromosome 6q12-16 in a French family with 9 individuals affected by the pure form of autosomal dominant DCM. This locus was found by using a genomewide search after exclusion of all reported disease loci and genes for DCM. The maximum pairwise LOD score was 3.52 at recombination fraction 0.0 for markers D6S1644 and D6S1694. Haplotype construction delineated a region of 16.4 cM between markers D6S1627 and D6S1716. This locus does not overlap with two other disease loci that have been described in nonpure forms of DCM and have been mapped on 6q23-24 and 6q23. The phospholamban, malic enzyme 1-soluble, and laminin-alpha4 genes were excluded as candidate genes, using single-strand conformation polymorphism or linkage analysis.
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